2020
DOI: 10.1002/ajmg.a.61901
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De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

Abstract: AMOTL1 belongs to the Motin family of proteins that are involved in organogenesis and tumorigenesis through regulation of cellular migration, tube formation, and angiogenesis. While involvement of all AMOTs in development or suppression of cancers is relatively well described, little is known about the congenital phenotype of pathogenic variants in these genes in humans. Recently, a heterozygous variant in AMOTL1 was published in association with orofacial clefts and cardiac abnormalities in an affected father… Show more

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Cited by 4 publications
(5 citation statements)
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“…We identified a hotspot for variants in AMOTL1 affecting amino acids 157–161. Together with two previously reported cases (Liegel et al, 2019; Rips et al, 2021), these constitute three recurring variants: p.(Arg157Cys) in three new families plus one previously reported case, p.(Arg157His) in four families, and p.(Pro160Leu) in one new family plus one previously reported individual. We additionally identified a variant affecting the adjacent amino acid (p.(Gln161Arg)) in a similarly affected adult.…”
Section: Resultssupporting
confidence: 60%
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“…We identified a hotspot for variants in AMOTL1 affecting amino acids 157–161. Together with two previously reported cases (Liegel et al, 2019; Rips et al, 2021), these constitute three recurring variants: p.(Arg157Cys) in three new families plus one previously reported case, p.(Arg157His) in four families, and p.(Pro160Leu) in one new family plus one previously reported individual. We additionally identified a variant affecting the adjacent amino acid (p.(Gln161Arg)) in a similarly affected adult.…”
Section: Resultssupporting
confidence: 60%
“…AMOTL1 encodes the protein angiomotin‐like protein 1, which plays a critical role in cell polarity, adhesion, and migration. To date, two heterozygous variants in AMOTL1 affecting amino acids 157 and 160 have been reported in patients with some clinical overlap including orofacial clefting and multi‐organ disease (Liegel et al, 2019; Rips et al, 2021); however, the pathogenicity and the full spectrum of clinical features associated with AMOTL1 variants remains ill‐defined. Here, we present a total of 16 cases of children and adults across 12 families with heterozygous missense AMOTL1 variants (Tables 1 and 2, Tables S1–S4, Figures S1 and S2).…”
Section: Discussionmentioning
confidence: 99%
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“…Development was age appropriate. The mutation was identified as a de novo missense variant (c.479C>T) in a highly conserved residue [2].…”
Section: Introductionmentioning
confidence: 99%