Novel <scp><i>FOXP1</i></scp> pathogenic variants in two Indian subjects with syndromic intellectual disability

Moirangthem, Amita; Phadke, Shubha R.

doi:10.1002/ajmg.a.62083

Cited by 2 publications

(3 citation statements)

References 6 publications

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“…Subject P2 has been described previously (Moirangthem & Phadke, 2021). He had developmental delay, mainly language impairment, macrocephaly, and dysmorphic features (Figure 2e).…”

Section: Resultsmentioning

confidence: 99%

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India

Moirangthem

Mandal

Saxena

et al. 2021

American J of Med Genetics Pt A

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Overgrowth, defined as height and/or OFC ≥ +2SD, characterizes a subset of patients with syndromic intellectual disability (ID). Many of the disorders with overgrowth and ID (OGID) are rare and the full phenotypic and genotypic spectra have not been unraveled. This study was undertaken to characterize the phenotypic and genotypic profile of patients with OGID. Patients with OGID were ascertained from the cohort of patients who underwent cytogenetic microarray (CMA) and/or exome sequencing (ES) at our center over a period of 6 years. Thirty-one subjects (six females) formed the study group with ages between 3.5 months and 13 years. CMA identified pathogenic deletions in two patients. In another 11 patients, a disease causing variant was detected by ES. The spectrum of disorders encompassed aberrations in genes involved in the two main pathways associated with OGID. These were genes involved in epigenetic regulation like NSD1, NFIX, FOXP1, and those in the PI3K-AKT pathway like PTEN, AKT3, TSC2, PPP2R5D. Five novel pathogenic variants were added by this study. NSD1-related Sotos syndrome was the most common disorder, seen in five patients. A causative variant was identified in 61.5% of patients who underwent only ES compared to the low yield of 11.1% in the CMA group. The molecular etiology could be confirmed in 13 subjects with OGID giving a diagnostic yield of 42%. The major burden was formed by autosomal dominant monogenic disorders. Hence, ES maybe a better first-tier genomic test rather than CMA in OGID.

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“…Subject P2 has been described previously (Moirangthem & Phadke, 2021). He had developmental delay, mainly language impairment, macrocephaly, and dysmorphic features (Figure 2e).…”

Section: Resultsmentioning

confidence: 99%

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India

Moirangthem

Mandal

Saxena

et al. 2021

American J of Med Genetics Pt A

Self Cite

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“…In addition to the 11 cases reported in the systematic review, two cases were reported later and showed strabismus [4,5].…”

Section: Discussionmentioning

confidence: 96%

“…This patient also had strabismus that was corrected surgically. In addition to the 11 cases reported in the systematic review, two cases were reported later and showed strabismus [ 4 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) With Language Impairment Accompanied by Developmental Disability Caused by Forkhead Box Protein 1 (FOXP1) Exon Deletion: A Case Report

Alenezi¹,

Alyahya²,

Aldhalaan³

2021

Cureus

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Forkhead box protein 1 (FOXP1) (OMIM: 605515) is located at chromosomal region 3p14.1, which codes for a transcriptional repressor protein. FOXP1 syndrome (FOXP1S) (OMIM #613670) is caused by FOXP1 gene deletions and mutations (nonsense, missense, and in-frame deletions). It is identified by the presence of intellectual disability with language impairment, with or without autistic features. This paper describes the case of a seven-year-old girl mainly presenting with autism spectrum disorder, language impairment, and intellectual disability. In addition, she also exhibited signs of attention deficit hyperactivity disorder. Whole-exome sequencing showed that she had a mutation in the FOXP1 gene; the variant revealed was FOXP1: NM_001244813 with a deleted segment (1152-1164) of exon 11. Subsequently, she was diagnosed with FOXP1 syndrome. In order to manage behavioral disturbance, risperidone was given, and she showed marked improvement. In this article, we report the characteristic features of attention deficits hyperactivity in addition to previously reported autism spectrum disorder with language impairment accompanied by intellectual disability caused by FOXP1 exon deletion. This study aims to provide a systematic, comprehensive presentation of a patient with a FOXP1 mutation to contribute to the existing literature on this subject.

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Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability

Cited by 2 publications

References 6 publications

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India

Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) With Language Impairment Accompanied by Developmental Disability Caused by Forkhead Box Protein 1 (FOXP1) Exon Deletion: A Case Report

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