"Wrinkly skin syndrome"

and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. We report here on eight unrelated individuals born to non-consanguineous families clinically diagnosed with DBS or wrinkly skin syndrome. We found three heterozygous mutations in ALDH18A1 leading to amino acid substitutions of the same highly conserved residue, Arg138 in P5CS. A de novo origin

. Periorbital changes associated with topical bimatoprost. Ophthal Plast Reconstr Surg. 2008 Jul-Aug. 24(4):302-7. [QxMD MEDLINE Link]. 37. Gupta N, Phadke SR. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol. 2006 May-Jun. 23(3):225-30. [QxMD MEDLINE Link]. 38. Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Metabolic cutis laxa BL, Adès LC, Baspinar O, et al. Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet. 2010 Aug. 18(8):895-901. [QxMD MEDLINE Link]. [Full Text]. 34. Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, et al. Geroderma osteodysplasticum hereditaria and wrinkly skin

. Periorbital changes associated with topical bimatoprost. Ophthal Plast Reconstr Surg. 2008 Jul-Aug. 24(4):302-7. [QxMD MEDLINE Link]. 37. Gupta N, Phadke SR. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol. 2006 May-Jun. 23(3):225-30. [QxMD MEDLINE Link]. 38. Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Metabolic cutis laxa BL, Adès LC, Baspinar O, et al. Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet. 2010 Aug. 18(8):895-901. [QxMD MEDLINE Link]. [Full Text]. 34. Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, et al. Geroderma osteodysplasticum hereditaria and wrinkly skin

and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet. 2010 Aug. 18(8):895-901. [QxMD MEDLINE Link]. [Full Text]. 34. Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, et al. Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. Am J Med Genet A. 2008 Apr 15. 146A(8):965 Surg. 2008 Jul-Aug. 24(4):302-7. [QxMD MEDLINE Link]. 37. Gupta N, Phadke SR. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol. 2006 May-Jun. 23(3):225-30. [QxMD MEDLINE Link]. 38. Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Metabolic cutis laxa syndromes. J Inherit Metab Dis. 2011 Aug. 34 (4):907-16. [QxMD MEDLINE

and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet. 2010 Aug. 18(8):895-901. [QxMD MEDLINE Link]. [Full Text]. 34. Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, et al. Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. Am J Med Genet A. 2008 Apr 15. 146A(8):965 Surg. 2008 Jul-Aug. 24(4):302-7. [QxMD MEDLINE Link]. 37. Gupta N, Phadke SR. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol. 2006 May-Jun. 23(3):225-30. [QxMD MEDLINE Link]. 38. Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Metabolic cutis laxa syndromes. J Inherit Metab Dis. 2011 Aug. 34 (4):907-16. [QxMD MEDLINE

Cellular physiology of the renal H+ATPase. Vacuolar-type H+ATPases are multisubunit macromolecules that play an essential role in renal acid-base homeostasis. Other cellular processes also rely on the proton pumping ability of H+ATPases to acidify organellar or lumenal spaces. Several diseases, including distal renal tubular acidosis, osteoporosis and wrinkly skin syndrome, are due to mutations

of the biosynthesis of N- and O-linked glycans. Interestingly, similar mutations have been found in patients with wrinkly skin syndrome, without the presence of severe skin symptoms of elastin deficiency. These findings suggest that the cutis laxa and wrinkly skin syndromes are phenotypic variants of the same disorder. Interestingly many phenotypically similar patients carry no mutations in the ATP6V0A2 gene

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H(+)-ATPase subunit ATP6V0A2. We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. The mutations result in abnormal glycosylation of serum proteins (CDG-II) and cause an impairment

do not experience any signs or symptoms of the disorder.[citation needed]It has been associated with SCYL1BP1.[16]Diagnosis[edit]Differential diagnosis[edit]Many features of gerodermia osteodysplastica (GO) and another autosomal recessive form of cutis laxa, wrinkly skin syndrome (WSS, Online Mendelian Inheritance in Man (OMIM): 278250), are similar to such an extent that both disorders were believed to be variable phenotypes of a single disorder.[7][8]Several delineating factors, however, suggest that gerodermia osteodysplastica and wrinkly skin syndrome are distinct entities, but share the same clinic spectrum.[6][8]While the prevailing feature of wrinkly, loose skin is more localized with GO, it is usually systemic, yet eases in severity with age during the course of WSS.[6] Also