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2017 2
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Wieacker-Wolff syndrome with associated cleft palate in a female case.
Godfrey ND, Dowlatshahi S, Martin MM, Rothkopf DM. Godfrey ND, et al. Am J Med Genet A. 2018 Jan;176(1):167-170. doi: 10.1002/ajmg.a.38527. Epub 2017 Nov 17. Am J Med Genet A. 2018. PMID: 29150902
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. ...This case supports the unpredictability of Wieacker-Wolff syndrome severity and prompts future questions regarding female mutation …
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. ...This case s …
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Herman I, Jolly A, Du H, Dawood M, Abdel-Salam GMH, Marafi D, Mitani T, Calame DG, Coban-Akdemir Z, Fatih JM, Hegazy I, Jhangiani SN, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Herman I, et al. Am J Med Genet A. 2022 Mar;188(3):735-750. doi: 10.1002/ajmg.a.62565. Epub 2021 Nov 23. Am J Med Genet A. 2022. PMID: 34816580 Free PMC article.
CAPN3, MUSK, and ZC4H2 are established disease genes linked to limb-girdle muscular dystrophy (OMIM# 253600), congenital myasthenia (OMIM# 616325), and Wieacker-Wolff syndrome (WWS; OMIM# 314580), respectively. NAV2 is a retinoic-acid responsive novel disease …
CAPN3, MUSK, and ZC4H2 are established disease genes linked to limb-girdle muscular dystrophy (OMIM# 253600), congenital myasthenia (OMIM# 6 …
ZC4H2 deletions can cause severe phenotype in female carriers.
Zanzottera C, Milani D, Alfei E, Rizzo A, D'Arrigo S, Esposito S, Pantaleoni C. Zanzottera C, et al. Am J Med Genet A. 2017 May;173(5):1358-1363. doi: 10.1002/ajmg.a.38155. Epub 2017 Mar 27. Am J Med Genet A. 2017. PMID: 28345801
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated …
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in lite …
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
Kondo D, Noguchi A, Takahashi I, Kubota H, Yano T, Sato Y, Toyono M, Sawaishi Y, Takahashi T. Kondo D, et al. Brain Dev. 2018 Oct;40(9):760-767. doi: 10.1016/j.braindev.2018.05.003. Epub 2018 May 24. Brain Dev. 2018. PMID: 29803542
METHOD AND RESULT: Using Sanger sequencing, a hemizygous one base substitution designated c.627G > C, which is predicted to substitute asparagine for lysine at amino acid residue 209 (K209N), was identified in the siblings. The mother was heterozygous for this mutation. …
METHOD AND RESULT: Using Sanger sequencing, a hemizygous one base substitution designated c.627G > C, which is predicted to substi …