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Table 1 Deleted genes on the long arm of the chromosome 4, with a possible effect on the phenotype

From: Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension

GENES WITH POSSIBLE EFFECT ON THE PHENOTYPE
Gene Role Position on chr 4 Effect on the phenotype
PCDH18 Protocadherin 18: impact on cell-cell connection, highly expressed in the brain and lung. 138,440,071 Might be involved in intellectual disability [10].
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138,453,628
SETD7 Histone methyltransferase H3K4. 140,427,191 Regulation of the neural genes; differentiation of neuroectoderm progenitor cells [11].
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140,477,576
ELMOD2 GTPase activating protein: role in antiviral responses and pulmonary fibrosis. 141,445,311 Mutations in this gene may lead to familial idiopathic pulmonary fibrosis [12].
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141,474,923
IL15 Cytokine:affects T-cell activation and proliferation, controls the number of CD8+ memory T cells. 142,557,748 Dosage alteration of IL15 gene may explain patient’s low lymphocyte number [13].
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142,655,139
GAB1 Direct substrate of the epidermal growth factor receptor (EGFR). 144,257,679 Has an important role in branching tubulogenesis, and probably in the lung vessel malformation observed in our patient [14, 15].
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144,359,717
HHIP Hedgehog-Interacting Protein: effect on regulation of morphogenesis. 145,567,417 Possible correlation between the lung malformation of our patient and the gene [16, 17].
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145,662,541
SMAD1 Involved in the downstream signaling pathway of bone morphogenic protein (BMP) subfamily members. 146,402,950 SMAD1 deficiency may play a role in the development of pulmonary hypertension [1820].
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146,480,327
NR3C2 Mineralocorticoid receptor: impact on the regulation of sodium concentration in the body. NR3C2 mutations were published to influence the development of hyponatraemia. 148,999,914 Copy number changes of NR3C2 gene may be associated with low sodium levels [21].
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   149,365,849