TY - JOUR
T1 - A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
AU - Abarca Barriga, Hugo H.
AU - Caballero, Nathaly
AU - Trubnykova, Milana
AU - Castro-Mujica, María del Carmen
AU - La Serna-Infantes, Jorge E.
AU - Vásquez, Flor
AU - Hennekam, Raoul C.
N1 - Publisher Copyright:
© 2018 Wiley Periodicals, Inc.
PY - 2018/11
Y1 - 2018/11
N2 - Shawaf-Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in ASPH. Here, we report on a boy with the clinical diagnosis of Shawaf-Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in ASPH. We compare the findings in the present patient to those of earlier reported patients; furthermore add new signs for this entity.
AB - Shawaf-Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in ASPH. Here, we report on a boy with the clinical diagnosis of Shawaf-Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in ASPH. We compare the findings in the present patient to those of earlier reported patients; furthermore add new signs for this entity.
KW - ASPH
KW - Shawaf-Traboulsi syndrome
KW - Traboulsi syndrome
KW - autosomal recessive
KW - ectopia lentis
KW - exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85052962617&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.40508
DO - 10.1002/ajmg.a.40508
M3 - Artículo
C2 - 30194805
AN - SCOPUS:85052962617
SN - 1552-4825
VL - 176
SP - 2494
EP - 2500
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 11
ER -