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The female infant's features included psychomotor retardation, seizures, hypotonia, diffuse brain atrophy with delayed myelination, failure to thrive, pericardial effusion, cystic renal disease, hepatosplenomegaly, esotropia, and inverted nipples. Lipodystrophy and dysmorphic facial features were absent. Magnetic resonance imaging of the brain showed volume loss in the cerebral hemispheres and cerebellum and delayed myelination. Laboratory investigations revealed low levels of multiple serum proteins including antithrombin III, factor XI, and cholesterol. Hypoglycosylation was confirmed by the typical CDG type 1 pattern of serum transferrin analyzed by isoelectric focusing. A defect in the ALG9 enzyme was suggested by the accumulation of the DolPP‐GlcNAc2Man6 and DolPP‐GlcNAc2Man8 in the patient's fibroblasts and confirmed by mutation analysis: the patient is homozygous for the\u003Cjats:italic>ALG9\u003C\u002Fjats:italic>mutation p.Y286C. 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Loss of function mutations at NPR2 cause acromesomelic dysplasia, type Maroteaux, while overproduction of CNP by chromosomal translocation and a gain‐of‐function mutation at NPR2 have been reported to be responsible for an overgrowth syndrome in three cases and one family, respectively. We identified a four‐generation family with an overgrowth syndrome characterized by tall stature, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis, similar to those previously reported in association with CNP\u002FNPR2 overactivity. The serum level of amino‐terminal proCNP was normal in the proband. A novel missense mutation of \u003Cjats:italic>NPR2\u003C\u002Fjats:italic>, c.1462G>C (p.Ala488Pro) was found to co‐segregate with the phenotype in this family. In vitro transfection assay of the mutant NPR2 revealed overactivity of the mutant receptor at baseline as well as with the ligand. This overgrowth syndrome caused by a gain‐of‐function mutation at \u003Cjats:italic>NPR2\u003C\u002Fjats:italic> should be differentiated from Marfan or related syndromes, and may be categorized along with the overgrowth syndrome caused by overproduction of CNP due to its phenotypical similarity as overgrowth CNP\u002FNPR2 signalopathy. © 2013 Wiley Periodicals, Inc.\u003C\u002Fjats:p>\u003C\u002Fjats:sec>",{"EN":692},"Overgrowth syndrome associated with a gain‐of‐function mutation of the natriuretic peptide receptor 2 (\u003Ci>NPR2\u003C\u002Fi>) 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About half of them die within the first 6 months despite optimal medical care. A subset of those who survive eventually develop hypophosphatemic rickets. Since hypophosphatemia and hyperphosphaturia have been previously associated with increased survival in GACI patients, physicians often avoid phosphate repletion as treatment for rickets. As a consequence, GACI patients develop severe rachitic complications such as short stature and skeletal deformities. It appears that the recognition of hypophosphatemia later in life in some GACI patients is a consequence of having survived the first few months of life, and not the cause of their survival per se. Here, we report the long‐term follow‐up of a GACI patient who was phosphate‐repleted for his rickets for more than 7 years without worsening of vascular calcification. © 2016 Wiley Periodicals, Inc.\u003C\u002Fjats:p>\u003C\u002Fjats:sec>",{"EN":966},"Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification",{"VOID":968},"26857895",{"VOID":970},"10.1002\u002Fajmg.a.37574",[134],"https:\u002F\u002Fonlinelibrary.wiley.com\u002Fdoi\u002F10.1002\u002Fajmg.a.37574",[974,995,1017,1032,1059,1074],{"id":975,"sortIndex":139,"researcher":24,"roles":976,"affiliations":977,"properties":988},"d3165dc3-f874-42ff-9b10-e070b1580b14",[],[978],{"id":979,"sortIndex":25,"affiliation":980,"properties":24},"60dfc99f-a7a5-4aca-a930-909f8d1dd499",{"id":981,"createTime":982,"updateTime":982,"relativeEntities":983,"slug":984,"properties":985,"entityType":53,"verifyStatus":23,"verifyTime":24,"verifyNote":24,"syncStatus":23,"languages":24,"translateLanguages":24,"viewCount":25},"54042fa9-21a7-4800-8c25-0c969e41a968","2024-10-09T23:12:18.022+00:00",[],"Pediatric-Specialists-Avera-Medical-Group-Sioux-Falls-South-Dakota",{"title":986},{"EN":987},"Pediatric Specialists, Avera Medical Group, Sioux Falls, South Dakota",{"openalex":989,"orcid":991,"title":993},{"VOID":990},"A5063464531",{"VOID":992},"https:\u002F\u002Forcid.org\u002F0000-0001-9064-5993",{"EN":994},"Ashutosh Gupta",{"id":996,"sortIndex":311,"researcher":24,"roles":997,"affiliations":998,"properties":1010},"540a092b-58be-4a5b-bbc0-2c34fe09dfc8",[],[999],{"id":1000,"sortIndex":25,"affiliation":1001,"properties":24},"3ad4c970-6b45-490d-bf51-6360101bb3a6",{"id":1002,"createTime":1003,"updateTime":1004,"relativeEntities":1005,"slug":1006,"properties":1007,"entityType":53,"verifyStatus":23,"verifyTime":24,"verifyNote":24,"syncStatus":23,"languages":24,"translateLanguages":24,"viewCount":25},"dd00b581-7093-4d51-ba70-5972a5370b8b","2024-02-06T01:03:15.683+00:00","2024-11-28T07:13:20.118+00:00",[],"National-Human-Genome-Research-Institute-National-Institutes-of-Health-Bethesda-Maryland-",{"title":1008},{"VI":1009},"National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland;",{"openalex":1011,"orcid":1013,"title":1015},{"VOID":1012},"A5082442398",{"VOID":1014},"https:\u002F\u002Forcid.org\u002F0000-0002-2494-6752",{"EN":1016},"William A. 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A 15‐year‐old patient who had spondylocostal dysostosis (SCD) developed an MH crisis during general anesthesia. The patient was characterized phenotypically by block vertebrae, vertebral fusion, short neck and thorax, fused ribs, craniofacial abnormalities, spina bifida occulta, and a diaphragmatic defect closed surgically in early infancy. The diagnosis MH susceptible (MHS) was confirmed by the in vitro contracture test (IVCT) on a muscle biopsy. Surprisingly, the histopathological investigation revealed the presence of CCD too. Molecular genetic investigation of the \u003Cjats:italic>RYR1\u003C\u002Fjats:italic> gene was performed to search for known MH‐related mutations. Cluster regions of the \u003Cjats:italic>RYR1\u003C\u002Fjats:italic> gene, in which mutations have already been found, were examined by direct automated sequencing. In addition to the diagnosis MHS and CCD we were able to identify a novel RYR1 mutation in exon 46: 7358ATC > ACC, resulting in an Ile2453Thr substitution. This mutation was also present in the mother, in whom MH disposition and CCD were determined by muscle investigations. We suggest that the newly identified RYR1 mutation is closely associated with MH and CCD. A probable causative role of the \u003Cjats:italic>RYR1\u003C\u002Fjats:italic> gene in SCD patients should be assessed by further genetic investigations. © 2003 Wiley‐Liss, Inc.\u003C\u002Fjats:p>",{"EN":1185},"A new mutation in the skeletal ryanodine receptor gene (\u003Ci>RYR1\u003C\u002Fi>) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation",{"VOID":1187},"14708096",{"VOID":1189},"10.1002\u002Fajmg.a.20404",[134],"https:\u002F\u002Fonlinelibrary.wiley.com\u002Fdoi\u002F10.1002\u002Fajmg.a.20404",[1193,1213,1232,1247,1269],{"id":1194,"sortIndex":332,"researcher":24,"roles":1195,"affiliations":1196,"properties":1208},"7866ce78-4a74-4140-b995-1b2011cdbe17",[],[1197],{"id":1198,"sortIndex":25,"affiliation":1199,"properties":24},"494a34c1-7805-40a8-867c-199581c1af73",{"id":1200,"createTime":1201,"updateTime":1202,"relativeEntities":1203,"slug":1204,"properties":1205,"entityType":53,"verifyStatus":23,"verifyTime":24,"verifyNote":24,"syncStatus":23,"languages":24,"translateLanguages":24,"viewCount":25},"a5da0af8-f388-4c95-8852-36f6248c6bbe","2023-12-06T06:11:23.998+00:00","2024-10-05T22:33:29.927+00:00",[],"Institute-of-Human-Genetics-University-of-Leipzig-Germany",{"title":1206},{"VI":1207},"Institute of Human Genetics, University of Leipzig, Germany",{"openalex":1209,"title":1211},{"VOID":1210},"A5048765722",{"EN":1212},"Ursula G. 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The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low‐set ears and a hypotonic appearance. Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high‐pitched nasal voice, wormian bones and osteolysis may be present. Lateral meningocele syndrome has phenotypic overlap with Hajdu–Cheney syndrome. We performed exome resequencing in five unrelated individuals with LMS and identified heterozygous truncating \u003Cjats:italic>NOTCH3\u003C\u002Fjats:italic> mutations. In an additional unrelated individual Sanger sequencing revealed a deleterious variant in the same exon 33. In total, five novel de novo \u003Cjats:italic>NOTCH3\u003C\u002Fjats:italic> mutations were identified in six unrelated patients. One had a 26 bp deletion (c.6461_6486del, p.G2154fsTer78), two carried the same single base pair insertion (c.6692_93insC, p.P2231fsTer11), and three individuals had a nonsense point mutation at c.6247A > T (pK2083*), c.6663C > G (p.Y2221*) or c.6732C > A, (p.Y2244*). All mutations cluster into the last coding exon, resulting in premature termination of the protein and truncation of the negative regulatory proline‐glutamate‐serine‐threonine rich PEST domain. Our results suggest that mutant mRNA products escape nonsense mediated decay. 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Diagnostic criteria are highly specific, with decreased muscle mass, typical contractures and limb positioning at birth. Intellectual development is normal. The aims of this study were to investigate how muscle strength and contractures affect motor function in amyoplasia, and to relate current functional status to joint positions at birth. Medical records were reviewed and a clinical examination was performed, with investigation of muscle strength, range of motion, and motor function. Thirty‐five patients with amyoplasia participated and were divided into three functional groups: 11 community ambulators, 11 household ambulators, and 7 non‐ambulators. Six children less than 2 years old were not categorized. Community ambulators had the best muscle strength and none had knee flexion contractures extending 20 degrees. Household ambulators had severe contractures in the lower limbs, but good muscle strength in the upper limbs. Non‐ambulators had most severe contractures and most severely reduced muscle strength. Most of the non‐ambulators were born with hips in severe abduction, flexion and external rotation. Good and very good correlations were found between muscle strength and motor function, and only moderate correlations between range of motion and motor function. We conclude that more attention should be paid to developing muscle strength, with early stimulation of active movement, and that periods of immobilization should be minimized. 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reductase (\u003Cjats:italic>MTHFR\u003C\u002Fjats:italic>), an important enzyme in folate metabolism, is thought to be involved in the development of nonsyndromic orofacial clefts (NSOC). However, conflicting results have been achieved when evaluating the associations between infants' \u003Cjats:italic>MTHFR\u003C\u002Fjats:italic> C677T and A1298C polymorphisms and the risk of NSOC. To obtain more precise estimations of these associations, a meta‐analysis recruiting 17 case–control studies was performed. Among Asians we found that CT heterozygote, TT homozygote, and CT\u002FTT of infants' \u003Cjats:italic>MTHFR\u003C\u002Fjats:italic> C677T variant could contribute to elevated risks of NSOC, compared with CC wild‐type homozygote (OR = 1.741, 95% CI = 1.043–2.907 for CT vs. CC, OR = 2.311, 95% CI = 1.313–4.041 for TT vs. CC, and OR = 1.740, 95% CI = 1.051–2.882 for CT\u002FTT vs. CC, respectively). Similar effect was also observed on \u003Cjats:italic>MTHFR\u003C\u002Fjats:italic> 677T T allele, when using C allele as a reference in Asians (OR = 1.420, 95% CI = 1.191–1.693, for T allele vs. C allele). Furthermore, in stratified analysis by types of disease, CT\u002FCC was suggested to confer decreased susceptibility to CL\u002FP under recessive genetic model (OR = 0.854, 95% CI = 0.730–1.000). For \u003Cjats:italic>MTHFR\u003C\u002Fjats:italic> A1298C, the \u003Cjats:italic>MTHFR\u003C\u002Fjats:italic> 1298C allele in the case group of Caucasians was significantly lower than that in the control group, suggesting a protective effect against NSOC in Caucasian populations (OR = 0.711, 95% CI = 0.641–0.790, for C allele vs. A allele). In conclusion, the meta‐analysis provided confirmative evidences that infants' \u003Cjats:italic>MTHFR\u003C\u002Fjats:italic> C677T and A1298C polymorphisms were involved in the development of NSOC. © 2012 Wiley Periodicals, Inc.\u003C\u002Fjats:p>",{"EN":2494},"Infants' \u003Ci>MTHFR\u003C\u002Fi> polymorphisms and nonsyndromic orofacial clefts susceptibility: A meta‐analysis based on 17 case–control 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previous results indicated a moderate association between the methylenetetrahydrofolate reductase (\u003Cjats:italic>MTHFR\u003C\u002Fjats:italic>) gene 677C‐T variant and an increased risk of non‐syndromic cleft lip with or without cleft palate (nsCL\u002FP) among the northern but not southern population in China, suggesting possible genetic heterogeneity in the etiology of nsCL\u002FP between these two populations. It remains unknown whether the transforming growth factor alpha (\u003Cjats:italic>TGFA\u003C\u002Fjats:italic>) gene TaqI polymorphism and transforming growth factor beta 3 (\u003Cjats:italic>TGFB3\u003C\u002Fjats:italic>) gene CA repeats influence the risk of nsCL\u002FP differently between the northern and southern Chinese populations. In this study of 188 Chinese case‐parent triads, we found an independent association between the \u003Cjats:italic>TGFB3\u003C\u002Fjats:italic> variant and risk of nsCL\u002FP (OR = 2.10, 95% CI: 1.25–3.54 for heterozygotes; OR = 1.78, 95% CI: 0.83–3.83 for homozygotes). The \u003Cjats:italic>MTHFR\u003C\u002Fjats:italic> variant was associated with an increased risk of nsCL\u002FP among children in the north (OR = 3.11, 95% CI: 1.18–8.23 for heterozygotes; OR = 3.36, 95%CI: 1.14–9.93 for homozygotes) and appear to interact marginally with the \u003Cjats:italic>TGFB3\u003C\u002Fjats:italic> variant in the occurrence of nsCL\u002FP among southern subjects (OR = 0.26, 95% CI: 0.06–1.07). No association was found between the \u003Cjats:italic>TGFA\u003C\u002Fjats:italic> variant and risk of nsCL\u002FP in our data. Our results suggest that the \u003Cjats:italic>TGFB3\u003C\u002Fjats:italic> gene variant may be an important genetic risk factor for nsCL\u002FP occurrence in Chinese children, and we found no evidence of heterogeneity between northern and southern Chinese populations in the associations between \u003Cjats:italic>TGFB3\u003C\u002Fjats:italic> and \u003Cjats:italic>TGFA\u003C\u002Fjats:italic> variants and risk of nsCL\u002FP, but these results warrant further investigation. © 2010 Wiley‐Liss, Inc.\u003C\u002Fjats:p>",{"EN":2853},"\u003Ci>MTHFR\u003C\u002Fi>, \u003Ci>TGFB3\u003C\u002Fi>, and \u003Ci>TGFA\u003C\u002Fi> polymorphisms and their association with the risk of non‐syndromic cleft lip and cleft palate in China",{"VOID":2855},"20082468",{"VOID":2857},"10.1002\u002Fajmg.a.33113",[134],"https:\u002F\u002Fonlinelibrary.wiley.com\u002Fdoi\u002F10.1002\u002Fajmg.a.33113",[2861,2882,2899,2916,2936,2951],{"id":2862,"sortIndex":332,"researcher":24,"roles":2863,"affiliations":2864,"properties":2875},"5fdf3283-0e5b-47ee-b048-d1d0928d3642",[],[2865],{"id":2866,"sortIndex":25,"affiliation":2867,"properties":24},"09b5c971-68a6-41eb-8939-49c5d001af21",{"id":2868,"createTime":2869,"updateTime":2869,"relativeEntities":2870,"slug":2871,"properties":2872,"entityType":53,"verifyStatus":23,"verifyTime":24,"verifyNote":24,"syncStatus":23,"languages":24,"translateLanguages":24,"viewCount":25},"3eaaed8f-598c-4d94-9696-a89f7b5033c0","2024-10-01T21:19:54.024+00:00",[],"National-Reference-Laboratory-on-Reproductive-and-Child-Health-Ministry-of-Health-Peking-University-Health-Science-Center-Beijing-China",{"title":2873},{"EN":2874},"National Reference Laboratory on Reproductive and Child Health, Ministry of Health, Peking University Health Science Center, Beijing, China",{"openalex":2876,"orcid":2878,"title":2880},{"VOID":2877},"A5062809453",{"VOID":2879},"https:\u002F\u002Forcid.org\u002F0000-0001-9441-1182",{"EN":2881},"Yihua Tian",{"id":2883,"sortIndex":311,"researcher":24,"roles":2884,"affiliations":2885,"properties":2892},"1724f40a-45dd-48ac-b15c-9c6448f3eb07",[],[2886],{"id":2887,"sortIndex":25,"affiliation":2888,"properties":24},"4b62b022-c3cb-4dd2-b041-c03e2e04d2b1",{"id":2868,"createTime":2869,"updateTime":2869,"relativeEntities":2889,"slug":2871,"properties":2890,"entityType":53,"verifyStatus":23,"verifyTime":24,"verifyNote":24,"syncStatus":23,"languages":24,"translateLanguages":24,"viewCount":25},[],{"title":2891},{"EN":2874},{"openalex":2893,"orcid":2895,"title":2897},{"VOID":2894},"A5100748869",{"VOID":2896},"https:\u002F\u002Forcid.org\u002F0000-0001-5249-6536",{"EN":2898},"Li Zhu",{"id":2900,"sortIndex":197,"researcher":24,"roles":2901,"affiliations":2902,"properties":2909},"ac04f38d-256c-4ccb-98a2-b799667a97ca",[],[2903],{"id":2904,"sortIndex":25,"affiliation":2905,"properties":24},"4e971f72-3a98-4257-af35-b43d534a16c4",{"id":2868,"createTime":2869,"updateTime":2869,"relativeEntities":2906,"slug":2871,"properties":2907,"entityType":53,"verifyStatus":23,"verifyTime":24,"verifyNote":24,"syncStatus":23,"languages":24,"translateLanguages":24,"viewCount":25},[],{"title":2908},{"EN":2874},{"openalex":2910,"orcid":2912,"title":2914},{"VOID":2911},"A5100786681",{"VOID":2913},"https:\u002F\u002Forcid.org\u002F0000-0002-9766-0333",{"EN":2915},"Ling Hao",{"id":2917,"sortIndex":372,"researcher":24,"roles":2918,"affiliations":2919,"properties":2931},"a660e5aa-2c15-4877-8b3b-3c29bbe69f53",[],[2920],{"id":2921,"sortIndex":25,"affiliation":2922,"properties":24},"515edfd9-8f56-4f46-bb3a-e9679a3abfb7",{"id":2923,"createTime":2924,"updateTime":2925,"relativeEntities":2926,"slug":2927,"properties":2928,"entityType":53,"verifyStatus":23,"verifyTime":24,"verifyNote":24,"syncStatus":23,"languages":24,"translateLanguages":24,"viewCount":25},"e8ed9fdf-fa77-475a-8075-aecb817a48a4","2023-12-04T05:01:10.032+00:00","2024-10-01T21:19:54.059+00:00",[],"Food-Science-and-Human-Nutrition-Department-University-of-Florida-Gainesville-Florida",{"title":2929},{"VI":2930},"Food Science and Human Nutrition Department, University of Florida, Gainesville, Florida",{"openalex":2932,"title":2934},{"VOID":2933},"A5086171363",{"EN":2935},"Lynn B. 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HH, 1989, Association of genetic variation of the transforming growth factor‐alpha gene with cleft lip and palate, Am J Hum Genet, 45, 348",{},{"id":24,"text":3010,"url":24,"identifiers":3011},"10.1002\u002Fgepi.1039",{"doi":3010},{"id":24,"text":3013,"url":24,"identifiers":3014},"10.1056\u002FNEJM199911113412001",{"doi":3013},{"id":24,"text":3016,"url":24,"identifiers":3017},"10.1002\u002F1096-8628(20000619)92:5\u003C370::AID-AJMG17>3.0.CO;2-4",{"doi":3016},{"id":24,"text":3019,"url":24,"identifiers":3020},"Brown TA, 1999, Genomes",{},{"id":24,"text":3022,"url":24,"identifiers":3023},"10.1073\u002Fpnas.95.20.11763",{"doi":3022},{"id":24,"text":3025,"url":24,"identifiers":3026},"10.1597\u002F1545-1569(2000)037\u003C0274:DEONCL>2.3.CO;2",{"doi":3025},{"id":24,"text":3028,"url":24,"identifiers":3029},"Dai L, 2003, The prevalence analysis of cleft palate in Chinese perinatals: 1996–2000, Hua Xi Kou Qiang Yi Xue Za Zhi, 22, 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