Alpha-thalassemia mental retardation syndrome: A case report of two affected siblings

Zarina Abdul Latiff, Sharifah Azween S Omar, Sie Chong Doris Lau, Sau Wei Wong, Lai Choo Ong, Dayang Anita Abdul Aziz, Sharifah N. Akmal

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Alpha-thalassemia mental retardation syndrome is an X-linked mental retardation (MR) syndrome characterized by a recognizable facial appearance, infantile hypotonia and cryptorchidism. Although the presence of alpha-thalassemia facilitates the diagnosis, its absence does not exclude the diagnosis of this rare syndrome. We describe two siblings who presented with facial dysmorphism, MR and a four-generation pedigree that revealed an X-linked recessive inheritance pattern. Their red blood cell indices were within the normal range; however, hemoglobin H inclusions were detected following cresyl blue staining on their peripheral blood film. Mutational analysis revealed a point mutation C7156T that is predicted to have caused a premature termination within the alpha-thalassemia MR syndrome gene in both siblings. Confirmation of this mutation has facilitated the process of genetic counseling, carrier testing and prenatal diagnosis amongst female relatives in this family.

Original languageEnglish
Pages (from-to)67-70
Number of pages4
JournalJournal of Pediatric Neurology
Volume11
Issue number1
DOIs
Publication statusPublished - 2013

Fingerprint

alpha-Thalassemia
Intellectual Disability
Hemoglobin H
X-Linked Mental Retardation
Inheritance Patterns
X-Linked Genes
Muscle Hypotonia
Cryptorchidism
Erythrocyte Indices
Genetic Counseling
Pedigree
Heterozygote
Prenatal Diagnosis
Point Mutation
Reference Values
Erythrocytes
Staining and Labeling
Mutation
Genes

Keywords

  • Alpha-thalassemia mental retardation syndrome (ATR-X) gene
  • X-linked mental retardation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Alpha-thalassemia mental retardation syndrome : A case report of two affected siblings. / Abdul Latiff, Zarina; Omar, Sharifah Azween S; Lau, Sie Chong Doris; Wong, Sau Wei; Ong, Lai Choo; Abdul Aziz, Dayang Anita; Akmal, Sharifah N.

In: Journal of Pediatric Neurology, Vol. 11, No. 1, 2013, p. 67-70.

Research output: Contribution to journalArticle

@article{da5d959b208146c6b3dab487af041bf5,
title = "Alpha-thalassemia mental retardation syndrome: A case report of two affected siblings",
abstract = "Alpha-thalassemia mental retardation syndrome is an X-linked mental retardation (MR) syndrome characterized by a recognizable facial appearance, infantile hypotonia and cryptorchidism. Although the presence of alpha-thalassemia facilitates the diagnosis, its absence does not exclude the diagnosis of this rare syndrome. We describe two siblings who presented with facial dysmorphism, MR and a four-generation pedigree that revealed an X-linked recessive inheritance pattern. Their red blood cell indices were within the normal range; however, hemoglobin H inclusions were detected following cresyl blue staining on their peripheral blood film. Mutational analysis revealed a point mutation C7156T that is predicted to have caused a premature termination within the alpha-thalassemia MR syndrome gene in both siblings. Confirmation of this mutation has facilitated the process of genetic counseling, carrier testing and prenatal diagnosis amongst female relatives in this family.",
keywords = "Alpha-thalassemia mental retardation syndrome (ATR-X) gene, X-linked mental retardation",
author = "{Abdul Latiff}, Zarina and Omar, {Sharifah Azween S} and Lau, {Sie Chong Doris} and Wong, {Sau Wei} and Ong, {Lai Choo} and {Abdul Aziz}, {Dayang Anita} and Akmal, {Sharifah N.}",
year = "2013",
doi = "10.3233/JPN-120598",
language = "English",
volume = "11",
pages = "67--70",
journal = "Journal of Pediatric Neuroradiology",
issn = "1304-2580",
publisher = "IOS Press",
number = "1",

}

TY - JOUR

T1 - Alpha-thalassemia mental retardation syndrome

T2 - A case report of two affected siblings

AU - Abdul Latiff, Zarina

AU - Omar, Sharifah Azween S

AU - Lau, Sie Chong Doris

AU - Wong, Sau Wei

AU - Ong, Lai Choo

AU - Abdul Aziz, Dayang Anita

AU - Akmal, Sharifah N.

PY - 2013

Y1 - 2013

N2 - Alpha-thalassemia mental retardation syndrome is an X-linked mental retardation (MR) syndrome characterized by a recognizable facial appearance, infantile hypotonia and cryptorchidism. Although the presence of alpha-thalassemia facilitates the diagnosis, its absence does not exclude the diagnosis of this rare syndrome. We describe two siblings who presented with facial dysmorphism, MR and a four-generation pedigree that revealed an X-linked recessive inheritance pattern. Their red blood cell indices were within the normal range; however, hemoglobin H inclusions were detected following cresyl blue staining on their peripheral blood film. Mutational analysis revealed a point mutation C7156T that is predicted to have caused a premature termination within the alpha-thalassemia MR syndrome gene in both siblings. Confirmation of this mutation has facilitated the process of genetic counseling, carrier testing and prenatal diagnosis amongst female relatives in this family.

AB - Alpha-thalassemia mental retardation syndrome is an X-linked mental retardation (MR) syndrome characterized by a recognizable facial appearance, infantile hypotonia and cryptorchidism. Although the presence of alpha-thalassemia facilitates the diagnosis, its absence does not exclude the diagnosis of this rare syndrome. We describe two siblings who presented with facial dysmorphism, MR and a four-generation pedigree that revealed an X-linked recessive inheritance pattern. Their red blood cell indices were within the normal range; however, hemoglobin H inclusions were detected following cresyl blue staining on their peripheral blood film. Mutational analysis revealed a point mutation C7156T that is predicted to have caused a premature termination within the alpha-thalassemia MR syndrome gene in both siblings. Confirmation of this mutation has facilitated the process of genetic counseling, carrier testing and prenatal diagnosis amongst female relatives in this family.

KW - Alpha-thalassemia mental retardation syndrome (ATR-X) gene

KW - X-linked mental retardation

UR - http://www.scopus.com/inward/record.url?scp=84874504800&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84874504800&partnerID=8YFLogxK

U2 - 10.3233/JPN-120598

DO - 10.3233/JPN-120598

M3 - Article

AN - SCOPUS:84874504800

VL - 11

SP - 67

EP - 70

JO - Journal of Pediatric Neuroradiology

JF - Journal of Pediatric Neuroradiology

SN - 1304-2580

IS - 1

ER -