Abstract:
:SHFM6 (OMIM 225300) is caused by WNT10B pathogenic variants (12q13.12). It is one of the rarest forms of SHFM; with only seven pathogenic variants described in the world literature. Furthermore, it has not been determined if SHFM6 has specific phenotypic characteristics. In this paper, we present a case series of three unrelated families with SHFM6 caused by three novel WNT10B pathogenic variants. The index patient of the first family was homozygous for the nonsense variant c.676C > T (p.Arg226*) in the WNT10B gene. The index case of the second family had a homozygous splice variant c.338-1G > C in the WNT10B gene. Finally, the index case of the third family carried two different variants in the WNT10B gene: A nonsense variant (p.Arg226*), and a missense variant (p.Gln86Pro). The latter represents the first compound heterozygous pathogenic variant related to SHFM6. We also offer a classification system for the hand/foot defects to illustrate the specific phenotypic characteristics of SHFM6. Based on this classification and a review of all previously reported cases, we demonstrate that SHFM6 caused by WNT10B pathogenic variants have the following characteristics: more severe feet defects (compared to the hand defects), polydactyly, severe flexion digital contractures, and phalangeal dysplasia.
journal_name
Eur J Med Genetjournal_title
European journal of medical geneticsauthors
Al Ghamdi MA,Al-Qattan MM,Hadadi A,Alabdulrahman A,Almuzzaini B,Alatwi N,AlBalwi MAdoi
10.1016/j.ejmg.2019.103738subject
Has Abstractpub_date
2020-03-01 00:00:00pages
103738issue
3eissn
1769-7212issn
1878-0849pii
S1769-7212(19)30170-3journal_volume
63pub_type
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