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

Protocadherin 18: impact on cell-cell connection, highly expressed in the brain and lung.

138,440,071

Might be involved in intellectual disability [10].

-

138,453,628

Histone methyltransferase H3K4.

140,427,191

Regulation of the neural genes; differentiation of neuroectoderm progenitor cells [11].

-

140,477,576

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].

-

141,474,923

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].

-

142,655,139

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].

-

144,359,717

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].

-

145,662,541

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 [18–20].

-

146,480,327

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].

-

149,365,849