Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1

Shannon KM, O’Connell P, Martin GA et al (1994) Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders. N Engl J Med 330:597–601

Sorensen SA, Mulvihill JJ, Nielsen A (1986) Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms. New Engl J Med 314:1010–1015

Jin P, Yan K, Ye S et al (2021) Case Report: a synonymous mutation in NF1 located at the non-canonical splicing site leading to exon 45 skipping. Front Genet 12:772958

Bernier A, Larbrisseau A, Perreault S (2016) Cafe-au-lait macules and neurofibromatosis type 1: a review of the literature. Pediatr Neurol 60(24–9):e1

Alshahrani A, Abuoliat Z, Alshahrani AS et al (2022) Prevalence of associated endocrine diseases in patients with neurofibromatosis type 1. Avicenna J Med 12:16–20

Williams VC, Lucas J, Babcock MA et al (2009) Neurofibromatosis type 1 revisited. Pediatrics 123:124–133

Balcer LJ, Liu GT, Heller G et al (2001) Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging. Am J Ophthalmol 131:442–445

Ledbetter DH, Rich DC, O’Connell P et al (1989) Precise localization of NF1 to 17q11.2 by balanced translocation. Am J hum genet 44:20–24

Wallace MR, Andersen LB, Saulino AM et al (1991) A de novo Alu insertion results in neurofibromatosis type 1. Nature 353:864–866

Upadhyaya M, Osborn MJ, Maynard J et al (1997) Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Hum Genet 99:88–92

De Luca A, Bottillo I, Sarkozy A et al (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet 77:1092–1101

Baralle D, Mattocks C, Kalidas K et al (2003) Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A 119A:1–8

Trovo-Marqui AB, Tajara EH (2006) Neurofibromin: a general outlook. Clin Genet 70:1–13

Stewart DR, Brems H, Gomes AG et al (2014) Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. Genet Med 16:448–459

Side LE, Emanuel PD, Taylor B et al (1998) Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. Blood 92:267–272

Ishida C, Gupta V. Genetics, Molecular Testing. StatPearls. Treasure Island (FL), 2021.

Sharifi S, Kalayci T, Palanduz S et al (2021) Clinical characteristics and mutation spectrum of neurofibromatosis type 1 in 27 Turkish families. Balkan Med J 38:365–373

Kehrer-Sawatzki H, Cooper DN (2022) Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants. Hum Genet 141:177–191

Fu J, Li L, Lu G (2002) Relationship between microdeletion on Y chromosome and patients with idiopathic azoospermia and severe oligozoospermia in the Chinese. Chin Med J 115:72–75

Cheng J, Fu J, Zhou Q et al (2019) A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree. J Cell Mol Med 23:3776–3780

Wang F, Wang H, Tuan HF et al (2014) Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet 133:331–345

Zhang Q, Xu M, Verriotto JD et al (2016) Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Sci Rep 6:32792

Imani S, Cheng J, Mobasher-Jannat A et al (2018) Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. J Cell Mol Med 22:1733–1742

Fu Q, Xu M, Chen X et al (2017) CEP78 is mutated in a distinct type of Usher syndrome. J Med Genet 54:190–195

Koenekoop RK, Wang H, Majewski J et al (2012) Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet 44:1035–1039

Uhlen M, Fagerberg L, Hallstrom BM et al (2015) Proteomics. Tissue-based map of the human proteome. Science 347:1260419

Fu J, Zhou B, Zhang L et al (2020) Expressions and significances of the angiotensin-converting enzyme 2 gene, the receptor of SARS-CoV-2 for COVID-19. Mol Biol Rep 47:4383–4392

Cheng J, Peng J, Fu J et al (2020) Identification of a novel germline BRCA2 variant in a Chinese breast cancer family. J Cell Mol Med 24:1676–1683

Fu J, Cheng J, Liu X et al (2018) Evaluation genotypes of cancer cell lines HCC1954 and SiHa by short tandem repeat (STR) analysis and DNA sequencing. Mol Biol Rep 45:2689–2695

Zhu L, Cheng J, Zhou B et al (2017) Diagnosis for choroideremia in a large Chinese pedigree by nextgeneration sequencing (NGS) and noninvasive prenatal testing (NIPT). Mol Med Rep 15:1157–1164

Nykamp K, Anderson M, Powers M et al (2017) Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Genet Med 19:1105–1117

Dugoff L, Sujansky E (1996) Neurofibromatosis type 1 and pregnancy. Am J Med Genet 66:7–10

Remon-Ruiz P, Aliaga-Verdugo A, Guerrero-Vazquez R (2017) Pheochromocytoma in neurofibromatosis type 1 during pregnancy. Gynecol Endocrinol 33:93–95

Adams DR, Eng CM (2018) Next-generation sequencing to diagnose suspected genetic disorders. N Engl J Med 379:1353–1362