Unique Case of Polydactyly and A New Classification System

Haber, Lawrence; Adams, Heiko B.; Thompson, George H.; Duncan, Lori S; DiDomenico, Lawrence A.; McCluskey, William P.

doi:10.1097/bpo.0b013e3180342ff5

Cited by 11 publications

(14 citation statements)

References 6 publications

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“…This pedigree showed AD with incomplete penetrance which means that the individual who inherits the mutation will not necessary presented with the trait as in this Egyptian family there were members with apparently normal digits. This is in accordance with (Haber et al, 2007 andScott-Emuakpor andMadueke, 1976) who reported that postaxial polydactyly showed autosomal dominant inheritance with decreased penetrance (64.9%).…”

Section: Discussionsupporting

confidence: 91%

“…Polydactyly is presented in different patterns (Watson and Hennrikus, 1997). According to anatomical position of the extra digit, polydactyly may be preaxial (radial or tibial), postaxial (ulnar or fibular) or central polydactyly (presence of duplicated second, third, or fourth digits) (Haber et al, 2007). Crossed polydactyly is defined as presence of preaxial polydactyly of hands and postaxial of feet, or the reverse (Hosalkar et al, 1999).…”

Section: Introductionmentioning

confidence: 99%

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Polydactyly: A study of a four generation Egyptian family

2019

Aust. J. Basic & Appl. Sci.

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Background: Polydactyly is a musculoskeletal anomaly characterized by presence of extra digit or extra digits. It may be isolated, combined or syndromic. According to anatomical site of extra digit polydactyly may be preaxial, postaxial or central. Objective: The aim of the present work is to describe pattern, type and determine the possible mode of inheritance of polydactyly in an affected Egyptian family across different generations and evaluate its variation from other populations. Patient and Methods: The extra digit of the affected members were examined by inspection to determine its site (preaxial or postaxial), laterality, affected limb and presence or absence of polysyndactyly and tested for mobility and sensation. A pedigree was drawn up and photographs were taken. Results: Examination of this family revealed nine affected members; five were males and 4 were females. Two males and one female were presented with bilateral polydactyly on both limbs. Two males were having bilateral polydactyly confined to foot. One male was presented with bilateral polydactyly of hands only. Two females show polysyndactyly. A case with preaxial type I in left foot was noted. Apart of this anomaly all living family members were clinically free. Conclusion: The present study suggests autosomal dominance pattern of polydactyly in this affected Egyptian family with high penetrance and variable gene expressivity. Polydactyly varies between different populations as it's highly heterogeneous

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Polydactyly: A study of a four generation Egyptian family

2019

Aust. J. Basic & Appl. Sci.

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“…Another unusual form of polydactyly proposed by Nathan and Keniston is that of mixed polydactyly where preaxial and postaxial polydactyly exist in the same extremity. [6,7] Polydactyly may occur F: female; M: male.…”

Section: Discussionmentioning

confidence: 99%

“…In the modifi ed classifi cation, [6] type A polydactyly would be preaxial or postaxial, and could be unilateral or bilateral in hands or feet. Type B would indicate the polydactyly of the upper and lower extremities, either preaxial or postaxial.…”

Section: Familial Crossed Polysyndactylymentioning

confidence: 99%

Familial crossed polysyndactyly in four generations of an Indian family

et al. 2010

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“…3,6 The PAP involves extra digit at fifth digit/ toe and the least common type, axial (central) polydactyly characterized by duplication of central three digits (second, third or the fourth) and PPD involves a supernumerary digit/toe affecting the first digits/ toe (thumb). 7,8 In addition, other complex types of polydactylies like palmar/ventral and dorsal type polydactyly, haas-type polysyndactyly and mirror image polydactyly (MIP) have been reported in the literature. 3,9 The PAP is classified into two broad categories type A and B.…”

Section: Introductionmentioning

confidence: 99%

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

Umair¹,

Shah²,

Alhaddad³

et al. 2017

Eur J Hum Genet

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Polydactyly is characterized by an extra supernumerary digit/toe with or without bony element. To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. The present study involved characterization of large consanguineous family of Pakistani origin segregating post-axial polydactyly type A, restricted to lower limb, in autosomal recessive pattern. DNA of two affected members in the family was subjected to exome sequencing. Sanger sequencing was then followed to validate segregation of the variants in the family members. A homozygous splice acceptor site variant (c.395-1G>A) was identified in the IQCE gene, which completely co-segregated with post-axial polydactyly phenotype within the family. The homozygous variant was absent in different public variant databases, 7000 in-house exomes, 130 exomes from unrelated Pakistani individuals and 215 ethnically matched controls. Mini-gene splicing assay was used to test effect of the variant on function of the gene. The assay revealed loss of first nucleotide of exon 6, producing a -1 frameshift and a premature stop codon 22 bases downstream of the variant (p.Gly132Valfs*22). The study provided the first evidence of involvement of the IQCE gene in limbs development in humans.

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Unique Case of Polydactyly and A New Classification System

Cited by 11 publications

References 6 publications

Polydactyly: A study of a four generation Egyptian family

Polydactyly: A study of a four generation Egyptian family

Familial crossed polysyndactyly in four generations of an Indian family

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

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