A and B Postaxial polydactyly in two members of the same family

Ventruto, V; Theo, G.; Celona, A.; G, Fioretti; Pagano, L; Stabile, M; Cavaliere, Maria Luigia

doi:10.1111/j.1399-0004.1980.tb02294.x

Cited by 15 publications

(5 citation statements)

References 4 publications

(2 reference statements)

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“…However, of the 10 confirmed parental carriers, only the mother of proband 227 was found with PAP, which is consistent with incomplete penetrance of the condition in GLI1 heterozygotes. This mode of inheritance for isolated PAP has recurrently been reported (Castilla et al, ; Scott‐Emuakpor & Madueke, ; Temtamy & McKusick, ; Ventruto et al, ; Woolf & Woolf, ). The pedigree structure of case 227 provides support for dominant inheritance with incomplete penetrance (Figure a).…”

Section: Resultssupporting

confidence: 52%

“…Penetrance values of 68% and 43% were estimated for PAP‐A and PAP‐B, respectively (Castilla et al, ). Incomplete penetrance of PAP has also been corroborated in large pedigrees containing affected members from several generations (Ventruto et al, ; Woolf & Woolf, ). However, despite the elevated frequency of the condition, until now only specific variants in GLI3 have been associated with dominantly inherited nonsyndromic PAP (Radhakrishna, Wild, Grzeschik, & Antonarakis, ).…”

Section: Introductionmentioning

confidence: 81%

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Heterozygous pathogenic variants inGLI1are a common finding in isolated postaxial polydactyly A/B

et al. 2019

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Postaxial polydactyly (PAP) is a frequent limb malformation consisting in the duplication of the fifth digit of the hand or foot. Morphologically, this condition is divided into type A and B, with PAP‐B corresponding to a more rudimentary extra‐digit. Recently, biallelic truncating variants in the transcription factor GLI1 were reported to be associated with a recessive disorder, which in addition to PAP‐A, may include syndromic features. Moreover, two heterozygous subjects carrying only one inactive copy of GLI1 were also identified with PAP. Herein, we aimed to determine the level of involvement of GLI1 in isolated PAP, a condition previously established to be autosomal dominantly inherited with incomplete penetrance. We analyzed the coding region of GLI1 in 95 independent probands with nonsyndromic PAP and found 11.57% of these subjects with single heterozygous pathogenic variants in this gene. The detected variants lead to premature termination codons or result in amino acid changes in the DNA‐binding domain of GLI1 that diminish its transactivation activity. Family segregation analysis of these variants was consistent with dominant inheritance with incomplete penetrance. We conclude that heterozygous changes in GLI1 underlie a significant proportion of sporadic or familial cases of isolated PAP‐A/B.

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Section: Resultssupporting

confidence: 52%

Section: Introductionmentioning

confidence: 81%

Heterozygous pathogenic variants inGLI1are a common finding in isolated postaxial polydactyly A/B

et al. 2019

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“…Polydactyly in this family exhibited PAP type A and B this is in agreement with (Malik, 2014 andVentruto et al, 1980) who stated that studies of various pedigrees with PAP indicate that there are 2 phenotypically different forms. In postaxial polydactyly type A, the extra digit is well formed and articulates with the fifth or an extra metacarpal.…”

Section: Discussionsupporting

confidence: 91%

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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“…Postaxial polydactyly type A1 (PAPA1; MIM #174200) is characterized by a well‐formed additional finger articulating with the fifth or sixth metacarpal, whereas in postaxial polydactyly type B (PAPB) only a poorly developed extra digit is present . PAPA and PAPB can occur within the same pedigree …”

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confidence: 99%