Non-iron deficiency microcytic anemia, dysmorphic features, and intellectual disability: Diagnostic clues for α-thalassemia/mental retardation associated with chromosome 16 syndrome

The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort. This multisystem disorder primarily affects the central nervous system, the gastrointestinal, and the skeletal systems. In this article, we describe the first Mexican patient diagnosed by ES. The homozygous c.433C>T (p.Arg145*) variant of the OTUD6B gene confirmed this intellectual disability syndrome. In addition to seizures and other more frequently reported manifestations of this condition, this is the third patient with associated hypothyroidism and hypogammaglobulinemia, underscoring the value of screening for these conditions in other patients. The current challenge with this patient is to ensure medical management of his seizures and provide him with a better quality of life. The possibilities of additional therapeutic approaches may increase by understanding the physiopathology of the involved pathways.

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TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum

Clinical Genetics ◽

10.1111/cge.13937 ◽

2021 ◽

Author(s):

Ignacio Arroyo Carrera ◽

Miguel Fernández‐Burriel ◽

Pablo Lapunzina ◽

Jair Antonio Tenorio ◽

Verónica Deyanira García Navas ◽

...

Keyword(s):

Intellectual Disability ◽

Missense Variant ◽

Dysmorphic Features ◽

Phenotypic Spectrum

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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Journal of Applied Genetics ◽

10.1007/s13353-021-00636-1 ◽

2021 ◽

Author(s):

Aleksandra Jakubiak ◽

Krzysztof Szczałuba ◽

Magdalena Badura-Stronka ◽

Anna Kutkowska-Kaźmierczak ◽

Anna Jakubiuk-Tomaszuk ◽

...

Keyword(s):

Intellectual Disability ◽

Congenital Anomalies ◽

Chromosomal Region ◽

Neurodevelopmental Disorder ◽

Hirschsprung Disease ◽

Psychomotor Retardation ◽

Facial Features ◽

Dysmorphic Features ◽

Pathogenic Variants ◽

Intragenic Deletions

AbstractMowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland. Characteristic dysmorphic features, psychomotor retardation, intellectual disability, and congenital anomalies were present in all cases. The incidence of most common congenital anomalies (heart defect, Hirschsprung disease, brain defects) was similar to presented in literature. Epilepsy was less common compared to previously reported cases. Although the spectrum of disorders in patients with Mowat-Wilson syndrome is wide, knowledge of characteristic dysmorphic features awareness of accompanying abnormalities, especially intellectual disability, improves detection of the syndrome.

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3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Journal of Medical Genetics ◽

10.1136/jmedgenet-2013-101939 ◽

2013 ◽

Vol 51 (1) ◽

pp. 21-27 ◽

Cited By ~ 11

Author(s):

Julien Thevenon ◽

Patrick Callier ◽

Hélène Poquet ◽

Iben Bache ◽

Bjorn Menten ◽

...

Keyword(s):

Intellectual Disability ◽

Mood Disorder ◽

Clinical Entity ◽

Dysmorphic Features

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A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.34290 ◽

2011 ◽

Vol 158A (1) ◽

pp. 50-58 ◽

Cited By ~ 10

Author(s):

Elvera Sofos ◽

Matthew F. Pescosolido ◽

Jose B. Quintos ◽

Dianne Abuelo ◽

Shelly Gunn ◽

...

Keyword(s):

Intellectual Disability ◽

Dysmorphic Features

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A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1

Clinical Dysmorphology ◽

10.1097/mcd.0000000000000070 ◽

2015 ◽

Vol 24 (2) ◽

pp. 75-78 ◽

Cited By ~ 1

Author(s):

Peter Holmquist

Keyword(s):

Intellectual Disability ◽

Homozygous Deletion ◽

Dysmorphic Features

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HYPOCHROMIC MICROCYTIC ANEMIA OF INFANCY: IRON DEPLETION AS A FACTOR

PEDIATRICS ◽

10.1542/peds.18.6.959 ◽

1956 ◽

Vol 18 (6) ◽

pp. 959-978

Author(s):

Hugh W. Josephs

Keyword(s):

Iron Deficiency ◽

Severe Infection ◽

Microcytic Anemia ◽

Severe Anemia ◽

Iron Depletion ◽

Hypochromic Microcytic Anemia ◽

Premature Babies ◽

Number Of Factors ◽

The Difference ◽

Insight Into

In this work the author has attempted to gain insight into the significance of iron depletion by the use of 4 simple calculations, justification for which is found in recent articles. These are: (a) iron with which the infant is born; (b) iron retained from the food; (c) iron being used by the tissues and therefore unavailable for hemoglobin, and (d) iron combined with the total mass of hemoglobin. With these 4 figures it is possible to estimate the iron still potentially available for use (the "reserves" or "stones"). When the difference between a + b and c + d has reached about zero, depletion is considered to exist. The following characteristics of depletion may be emphasized: Depletion is the result of gain in weight and maximum possible usage of iron. It is therefore a normal result of growth and need not be associated with anemia. As soon as depletion has occurred, the organism is thereafter dependent on current absorption of iron. This is ordinarily sufficient, even with a diet of milk alone, to maintain an adequate concentration of hemoglobin after about 8 to 10 months of age. Severe anemia due to depletion alone is practically confined to premature babies whose relative gain in weight is rapid. Severe anemia in other than premature babies is the result of a number of factors by which iron becomes unavailable or is actually diverted from hemoglobin to storage. Response to iron medication is considerably better in infants with depletion than in those in whom some factor is present that interferes with iron utilization, and which is not connected by the mere giving of iron. The dependence on current absorption, whether the result of depletion or non-availability, introduces a certain precariousness which is apparently characteristic of this time of life. The organism gets along from day to day if nothing happens, but may not be able to meet an emergency, whether this appears as a rapid gain in weight, or a necessity to repair damage done by severe infection. If we consider iron deficiency as the cause of anemia, we can think of deficiency as due to a number of factors of which depletion is only one. The development and characteristics of depletion have been considered in this paper; other factors in iron deficiency will be considered in subsequent papers.

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Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

Journal of Child Neurology ◽

10.1177/0883073818811454 ◽

2018 ◽

Vol 34 (2) ◽

pp. 86-93 ◽

Cited By ~ 2

Author(s):

John C. Herriges ◽

Ellen M. Arch ◽

Pamela A. Burgio ◽

Erin E. Baldwin ◽

Danielle LaGrave ◽

...

Keyword(s):

Intellectual Disability ◽

Learning Difficulties ◽

Growth Failure ◽

Speech Delay ◽

Review Of The Literature ◽

Phenotype Correlation ◽

Additional Insight ◽

Dysmorphic Features ◽

Phenotypic Spectrum ◽

Insight Into

To date, 13 patients with interstitial microduplications involving Xq25q26.2 have been reported. Here, we report 6 additional patients from 2 families with duplications involving Xq25q26.2. Family I carries a 5.3-Mb duplication involving 26 genes. This duplication was identified in 3 patients and was associated with microcephaly, growth failure, developmental delay, and dysmorphic features. Family II carries an overlapping 791-kb duplication that involves 3 genes. This duplication was identified in 3 patients and was associated with learning disability and speech delay. The size and gene content of published overlapping Xq25q26.2 duplications vary, making it difficult to define a critical region or establish a genotype-phenotype correlation. However, patients with overlapping duplications have been found to share common clinical features including microcephaly, growth failure, intellectual disability, learning difficulties, and dysmorphic features. The 2 families presented here provide additional insight into the phenotypic spectrum and clinical significance of duplications in this region.

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