Report of the first clinical case of a moroccan kabuki patient with a novel MLL2 mutation

I. Ratbi, N. Fejjal, L. Micale, B. Augello, C. Fusco, J. Lyahyai, G. Merla, A. Sefiani

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, mental retardation, and immunological defects. Point mutations and large intragenic deletions and duplications of the mixed lineage leukemia 2 (MLL2) and exons deletions of lysine demethylase 6A (-KDM6A) genes have been identified as its underlying causes. We report on the first description of a Moroccan Kabuki syndrome patient with typical facial features, developmental delay, finger pads, and other anomalies carrying a novel splice site mutation in the MLL2 gene that produces a truncated and likely pathogenetic form of MLL2 protein.

Original languageEnglish
Pages (from-to)152-156
Number of pages5
JournalMolecular Syndromology
Volume4
Issue number3
DOIs
Publication statusPublished - Mar 2013

Fingerprint

Leukemia
Mutation
Myeloid-Lymphoid Leukemia Protein
Dermatoglyphics
Point Mutation
Intellectual Disability
Genes
Fingers
Lysine
Exons
Kabuki syndrome

Keywords

  • Kabuki syndrome
  • MLL2
  • Splicing mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Report of the first clinical case of a moroccan kabuki patient with a novel MLL2 mutation. / Ratbi, I.; Fejjal, N.; Micale, L.; Augello, B.; Fusco, C.; Lyahyai, J.; Merla, G.; Sefiani, A.

In: Molecular Syndromology, Vol. 4, No. 3, 03.2013, p. 152-156.

Research output: Contribution to journalArticle

@article{173df0fe7c074291ada4e5572ee1b9f4,
title = "Report of the first clinical case of a moroccan kabuki patient with a novel MLL2 mutation",
abstract = "Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, mental retardation, and immunological defects. Point mutations and large intragenic deletions and duplications of the mixed lineage leukemia 2 (MLL2) and exons deletions of lysine demethylase 6A (-KDM6A) genes have been identified as its underlying causes. We report on the first description of a Moroccan Kabuki syndrome patient with typical facial features, developmental delay, finger pads, and other anomalies carrying a novel splice site mutation in the MLL2 gene that produces a truncated and likely pathogenetic form of MLL2 protein.",
keywords = "Kabuki syndrome, MLL2, Splicing mutation",
author = "I. Ratbi and N. Fejjal and L. Micale and B. Augello and C. Fusco and J. Lyahyai and G. Merla and A. Sefiani",
year = "2013",
month = "3",
doi = "10.1159/000346798",
language = "English",
volume = "4",
pages = "152--156",
journal = "Molecular Syndromology",
issn = "1661-8769",
publisher = "S. Karger AG",
number = "3",

}

TY - JOUR

T1 - Report of the first clinical case of a moroccan kabuki patient with a novel MLL2 mutation

AU - Ratbi, I.

AU - Fejjal, N.

AU - Micale, L.

AU - Augello, B.

AU - Fusco, C.

AU - Lyahyai, J.

AU - Merla, G.

AU - Sefiani, A.

PY - 2013/3

Y1 - 2013/3

N2 - Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, mental retardation, and immunological defects. Point mutations and large intragenic deletions and duplications of the mixed lineage leukemia 2 (MLL2) and exons deletions of lysine demethylase 6A (-KDM6A) genes have been identified as its underlying causes. We report on the first description of a Moroccan Kabuki syndrome patient with typical facial features, developmental delay, finger pads, and other anomalies carrying a novel splice site mutation in the MLL2 gene that produces a truncated and likely pathogenetic form of MLL2 protein.

AB - Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, mental retardation, and immunological defects. Point mutations and large intragenic deletions and duplications of the mixed lineage leukemia 2 (MLL2) and exons deletions of lysine demethylase 6A (-KDM6A) genes have been identified as its underlying causes. We report on the first description of a Moroccan Kabuki syndrome patient with typical facial features, developmental delay, finger pads, and other anomalies carrying a novel splice site mutation in the MLL2 gene that produces a truncated and likely pathogenetic form of MLL2 protein.

KW - Kabuki syndrome

KW - MLL2

KW - Splicing mutation

UR - http://www.scopus.com/inward/record.url?scp=84876257497&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84876257497&partnerID=8YFLogxK

U2 - 10.1159/000346798

DO - 10.1159/000346798

M3 - Article

VL - 4

SP - 152

EP - 156

JO - Molecular Syndromology

JF - Molecular Syndromology

SN - 1661-8769

IS - 3

ER -