Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-01-28

AUTHORS

Gerarda Cappuccio, Alessandro Rossi, Paolo Fontana, Emma Acampora, Valeria Avolio, Giuseppe Merla, Leopoldo Zelante, Aurelio Secinaro, Generoso Andria, Daniela Melis

ABSTRACT

BACKGROUND: Kabuki syndrome (KS) is a rare, multiple congenital anomalies/intellectual disability syndrome caused by mutations of MLL2 gene, which codifies for a histone methyltrasferase that regulates the embryogenesis and the tissue development. Left-bronchial isomerism is a rare congenital abnormality that can be defined as the absence of the normal lateralizing features which distinguish right and left-sides in the lungs. To date, this is the first report of left-bronchial isomerism in association with KS. CASE PRESENTATION: A one-month-old Caucasian male patient underwent our attention for microcephaly, dysmorphic features (long palpebral fissures, eyebrows with sparse lateral third, everted lower eyelids, blue sclerae, large dysplastic ears, lower lip pits), persistent fetal fingertip pads, short stature, heart defects (interventricular defect and aortic coarctation), unilateral cryptorchidism, hypotonia and delay in gross motor skills. These features suggested a diagnosis of KS and a molecular analysis confirmed a novel frame-shift mutation in the exon 11 of MLL2 gene. Subsequently, given recurrent respiratory infections with a normal immunological status, he underwent a chest CT scan that showed a left bronchial isomerism. CONCLUSION: We report a patient affected by KS, with a novel MLL2 mutation and an atypical phenotype characterized by left-side bronchial isomerism. Interestingly, genes involved in the heterotaxia/isomerism such as ROCK2 and SHROOM3 are known to interact with MLL2 gene. In order to achieve a correct diagnosis and an appropriate therapy, the presence of pulmonary anatomical variations should be investigated in KS patients with respiratory signs not associated to immunological deficiency. Finally, our findings support the hypothesis that the mutations leading to a complete loss of function of MLL2 gene is often associated with complex visceral malformations. More... »

PAGES

15-15

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1471-2350-15-15

DOI

http://dx.doi.org/10.1186/1471-2350-15-15

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1012712397

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24472332


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63 cryptorchidism
64 date
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80 function
81 genes
82 gross motor skills
83 heart defects
84 heterotaxia/isomerism
85 histone methyltrasferase
86 hypothesis
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99 methyltrasferase
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101 molecular analysis
102 motor skills
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106 normal lateralizing features
107 novel frame-shift mutation
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