Congenital bilateral amazia associated with bilateral choanal atresia

Papadimitriou, Anastasios; Karapanou, Olga; Papadopoulou, Anna; Nicolaidou, Polyxeni; Fretzayas, Andrew

doi:10.1002/ajmg.a.32935

Cited by 10 publications

(3 citation statements)

References 24 publications

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“…These overlapping clinical features led to PTPN14 being considered as a candidate gene for the patient described here. Although exposure to some teratogenic factors such as carbimazole has been shown to be associated with occurrence of choanal atresia and other developmental abnormalities, no history of hyperthyroidism, thyrotoxicosis and use of carbimozale before and/or during pregnancy was noted in the mother of the patient (Greenberg et al, 1987;Papadimitriou et al, 2009). As with the previously described family,…”

Section: Discussionsupporting

confidence: 61%

A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema

et al. 2017

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A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema, Meta Gene (2017), doi: 10.1016/j.mgene. 2017.07.006 This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. this is the second family with ''choanal atresia and lymphedema syndrome'' to be reported worldwide. In contrast to the first reported family that showed lymphedema in late childhood, the patient described here displays lymphedema in her lower limbs at early infancy associated with growth delay, mild facial swelling, congenital hypothyroidism and some minor developmental abnormalities. This report confirms the causality of PTPN14 lossof-function mutations and further expands the clinical phenotype of this rare genetic syndrome.

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Section: Discussionsupporting

confidence: 61%

A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema

et al. 2017

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“…Ausavarat et al, is supplemented with a summary of 62 other cases with absent breast tissue/nipples, most of which are molecularly undefined. We identified an additional seven reports of cases with phenotypic similarity to our patients, but without a molecular diagnosis (Al‐Gazali et al, ; Dumic, Cvitanovic, Saric, Spehar, & Batinica, ; Hisama, Reyes‐Mugica, Wargowski, Thompson, & Mahoney, ; Horvath & Armstrong, ; Papadimitriou, Karapanou, Papadopoulou, Nicolaidou, & Fretzayas, ; Qazi, Kanchanapoomi, Beller, & Collins, ; Uchida, Konishi, Inoue, Otake, & Kusunoki, ).…”

Section: Discussionmentioning

confidence: 88%

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome

Baldridge

Spillmann

Wegner

et al. 2020

American J of Med Genetics Pt A

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Pathogenic variants in KMT2D, which encodes lysine specific methyltransferase 2D, cause autosomal dominant Kabuki syndrome, associated with distinctive dysmorphic features including arched eyebrows, long palpebral fissures with eversion of the lower lid, large protuberant ears, and fetal finger pads. Most disease-causing variants identified to date are putative loss-of-function alleles, although 15-20% of cases are attributed to missense variants. We describe here four patients (including one previously published patient) with de novo KMT2D missense variants and with shared but unusual clinical findings not typically seen in Kabuki syndrome, including athelia (absent nipples), choanal atresia, hypoparathyroidism, delayed or absent pubertal development, and extreme short stature. These individuals also lack the typical dysmorphic facial features found in Kabuki syndrome. Two of the four patients had severe interstitial lung disease. All of these variants cluster within a 40-amino-acid region of the protein that is located just N-terminal of an annotated coiled coil domain. These findings significantly expand the phenotypic spectrum of features associated with variants in KMT2D beyond those seen in Kabuki syndrome and suggest a possible new underlying disease mechanism for these patients. K E Y W O R D S athelia, Kabuki syndrome, KMT2D

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“…Sometimes it is associated with absence of sternal portion of pectoralis muscle (Poland syndrome). Bilateral amazia can be associated with face, limb, and vertebrae anomalies [1,3]. Athelia is a congenital condition in which one or both nipples are absent.…”

Section: Discussionmentioning

confidence: 99%