Article
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
American journal of medical genetics. Part A - 1 Aug 2011
Skidmore David L, Chitayat David, Morgan Tim, Hinek Alek, Fischer Bjoern, Dimopoulou Aikaterini, Somers Gino, Halliday William, Blaser Susan, Diambomba Yenge, Lemire Edmond G, Kornak Uwe, Robertson Stephen P
Abstract excerpt
We report on the third case of cutis laxa and progeroid features caused by a homozygous mutation in ALDH18A1 that encodes Δ¹-pyrroline-5-carboxylate-synthase (P5CS). This severely affected child, born to consanguineous parents of Pakistani origin, presented with lax, wrinkled and thin skin with dilated and tortuous subcutaneous blood vessels, corneal clouding, and hypotonia. The child had severe global...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Base Sequence
- Cell Proliferation
- Cells, Cultured
- Consanguinity
- Contracture
- Cornea
- Corneal Transplantation