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Case Reports
. 2016 Dec;30(12):e210-e213.
doi: 10.1111/jdv.13540. Epub 2015 Dec 21.

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

F Ahmad  1 , M Ansar  1 , S Mehmood  1 , A Izoduwa  2 , K Lee  2 , A Nasir  1 , M Abrar  1 , S Mehmood  1 , A Ullah  1 , A Aziz  1 ; University of Washington Center for Mendelian Genomics  3 ; J D Smith  2 , J Shendure  2 , M J Bamshad  2 , D A Nicekrson  2 , R L P Santos-Cortez  2 , S M Leal  2 , W Ahmad  1   4
Affiliations
Case Reports

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

F Ahmad et al. J Eur Acad Dermatol Venereol. 2016 Dec.
No abstract available

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Figures

Figure 1
Figure 1
Pedigrees of the three consanguineous families segregating autosomal recessive congenital ichthyosis (ARCI). Double lines indicate a consanguineous union. Clear symbols represent unaffected and filled symbols affected individuals. A cross line on the symbol indicates a deceased individual. Clinical features of affected members are presented in panels d and e (family a), f and g (family b), h and i (family c).
Figure 2
Figure 2
Characteristics of the novel missense variant (c.102C>A, pAsp34Glu) in the PNPLA1 gene. Upper panel (a) represents nucleotide sequence in a homozygous affected member, middle panel (b) a heterozygous carrier and lower panel (c) a homozygous unaffected member. (d) Schematic representations showing the coding regions of patatin-like phospholipase domain-containing protein 1 isoform 2 (NM_173676.2). The * represents a variant site in exon 2. (e) Predicted structure of PNPLA1 proteins including the patatin domain beginning at Ile16, and hydrophobic domain lies between Leu336 and Ser418, and end of the protein at Gln532. Arrows indicate three previously reported (p.Ala59Val, p.Glu131*, p.Ala34Thr) and a novel mutation p.Asp34Glu (this report) in the patatin domain. (f) Three-dimensional structure of the patatin domain indicating beta sheets in yellow, alpha helices in red, and wild type polar charged Asp34 in green colour. The panel (g) indicates mutant Glu34 in light green colour. (h) Computed surface of the patatin-like domain, coloured by hydrophobicity. (i) Comparison of partial amino acid sequence of human PNPLA1 across different species. Aspartate (D) within the box indicates the conserved residue across different species. The missense mutation (p.Asp34Glu) affecting conserved aspartate residue in human PNPLA1 is indicated by an arrow.
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References

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